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| Nomenclature |
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Symbol:
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Tmc1Mhdabth
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Name:
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transmembrane channel-like gene family 1;
Martin Hrabe de Angelis beethoven
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MGI ID: |
MGI:2177263 |
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Synonyms: |
beethoven, Bth, DEA3, Tmc1Bth |
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Gene:
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Tmc1
Location:
Chr19:20783458-20954202 bp, - strand
Genetic Position: Chr19,
13.98 cM, cytoband B
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Mutation
origin |
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Strain of Origin:
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C3HeB/FeJ
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: The mutation is a T-to-A transversion at position 1235 in exon 13 of the gene. It is predicted to change amino acid 412 from a methionine to a lysine. (J:75103)
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Inheritance: | |
Semidominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:75103
Vreugde S et al.,
"Beethoven, a mouse model for dominant, progressive hearing loss DFNA36."
Nat Genet 2002 Mar;30(3):257-8
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All: |
5 reference(s)
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Analysis Tools
